Women with breast cancer often face crucial decisions about the extent of their surgical treatment. Those women who meet National Comprehensive Cancer Network (NCCN) guidelines for genetic evaluation should undergo BRCA1 and BRCA2 testing before they make decisions about surgery, because the presence of BRCA mutations may carry a substantial risk of future cancer.

This risk for future cancer strongly influences decisions related to surgical treatment. A new study found that 72% of women with breast cancer who underwent BRCA testing before surgery and learned that they were BRCA positive changed their plans for surgical treatment. Many women with a BRCA1 or BRCA2 mutation chose a more extensive procedure such as a double mastectomy, and sometimes they opted for ovary removal.

"When a woman hears that she has a 65% chance of a new breast cancer in the future, or a 60% chance of ovarian cancer, she is likely to do whatever she can to prevent that," said Elizabeth Lokich, MD, an obstetrics and gynecology fellow in the Warren Alpert Medical School of Brown University, Providence, Rhode Island.

This retrospective cohort study reviewed records of 302 breast cancer patients who met NCCN guidelines and had BRCA mutation testing performed prior to surgery. Thirty-two (10.6%) women had a BRCA mutation and most of these had early stage disease (55.6% T1 lesions, 72.8% node negative). Women with the BRCA mutation were more likely to have hormone receptor-negative tumors (56.0% versus 26.2%).

Based on knowledge of their BRCA mutation status, 23 (72%) of the women who tested positive changed their plans for surgical treatment compared to 29% percent of women who tested negative for BRCA mutations.

Among the women who had a BRCA1 or BRCA2 mutation, 31.3% chose lumpectomies, while 59.4% chose double mastectomies, and 12.5% chose ovary removal. In the group of women who tested negative for BRCA mutations, 58.5% chose lumpectomies, 20.7% chose double mastectomy, and none chose ovary removal.

Lokich and her colleagues found that genetic testing caused some delays in surgery. However, the delays did not postpone surgery more than 90 days postdiagnosis, the time that studies have shown to be clinically significant.

The authors concluded, "We recommend that women meeting NCCN referral guidelines have their genetic evaluation done prior to surgical intervention so they can make informed decisions about the extent of their surgical treatment."

This study was published in the journal Gynecological Oncology (doi:10.1016/j.ygyno.2014.05.028).